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<p>SCA45/FAT2-associated late-onset cerebellar ataxia was reported in 2017 in 2 families with pure cerebellar syndrome with age of onset after 40 years of age. Similar few families with SCA45 have been reported so far. Hereby, we report a 25-year-old man presenting with pan-cerebellar syndrome noticed at an age of 22 years and had a novel missense variant in FAT2 gene.</p>

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FAT2-associated early-onset cerebellar ataxia: report of novel phenotype and variant

  • 期刊论文

  • 发表日期：

    2026年7月29日

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  • Rohan R. Mahale,
  • Pramod K.,
  • Shravan H.,
  • Pooja Mailankody

摘要

SCA45/FAT2-associated late-onset cerebellar ataxia was reported in 2017 in 2 families with pure cerebellar syndrome with age of onset after 40 years of age. Similar few families with SCA45 have been reported so far. Hereby, we report a 25-year-old man presenting with pan-cerebellar syndrome noticed at an age of 22 years and had a novel missense variant in FAT2 gene.